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Results 1 - 8 of 8 for Intellectual developmental "disorder," autosomal recessive 71
  1. Aromatic l-amino acid decarboxylase deficiency 
    ... levels of these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal ... gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  2. Microcephaly, seizures, and developmental delay 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and ... PubMed ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  3. Guanidinoacetate methyltransferase deficiency 
    ... CD. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol. 2014 Jul;34(3):350-6. ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  4. Ornithine translocase deficiency 
    ... disorders. SLC25A15 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  5. Smith-Lemli-Opitz syndrome 
    ... syndrome. DHCR7 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/smith-lemli-opitz-syndrome - Genetics
  6. Argininosuccinic aciduria 
    ... condition. ASL This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria - Genetics
  7. CLN5 disease 
    ... life. CLN5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  8. Chromosome 1 
    ... Horn D, Mundlos S. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics